My life with a house full of girls and the boy who is changing everything.

Tuesday, November 25, 2008

Katie

I mentioned yesterday that we took Katie to the neurologist. The reason we took her was because I have been worrying that her hand muscles were weak and that she might need occupational therapy to strengthen them. Our pediatrician said that we needed to start with an evaluation from a neurologist, so off we went.

After giving Katie a very thorough examination, the neurologist was very impressed with how advanced she is mentally, but said he was unimpressed with her lack of hand strength. He said that if I wasn't worried about it, he wouldn't send her for occupational therapy, but he was going to, just in case I'm right. He also said that because she is so advanced in every other way, having this little thing "wrong" with her might be the one thing that allows her to "be normal" and "blend into society." LOL!

The neurologist did find one thing that he was concerned about though. He noticed that Katie seems to have very elastic skin on her hands and arms, and that I do, too, though not as significant. He said that elastic skin, as well as weak muscles, are symptoms of a genetic disorder called Ehlers-Danlos Syndrome. He wants us to take her to the the USF Genetics Department to have her tested for it.

So, once we get through the Thanksgiving festivities this week, I'll be calling to schedule Katie for more appointments to get this all figured out. Wish us luck!

6 comments:

Best of luck to you. I was just diagnosed with EDS at the geneticist yesterday (though we've been suspecting it for months now). It seems huge and scary, but remember that to Katie, it's normal - just how her body works. There are some great online resources, including the EDNF, so keep yourself informed!

Aren't we glad for mother's intuition! It took for 4 years to get our little Erin diagnosed with a Learning disability. Mom's just know these things.Keep us updated on little Katie, she is cute as a button!